ArticleMolecular genetics & genomic medicine2020
Two rare PROX1 variants in patients with lymphedema.
Article in Molecular genetics & genomic medicine, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.
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Who cites it
7 citing papers in PubMed, 6 citations in OpenAlex.
- Impaired lymphatic drainage in a child with hydrops fetalis and a novel variant in the PROX1 gene: case report and review of literature.Frontiers in cardiovascular medicine · 2026Article
- Case Report: Surgical management of primary lymphedema with a novel PROX1 mutation involving upper and lower limbs.Frontiers in genetics · 2025Article
- Advances in etiology, pathophysiology, diagnosis, and management of lymphedema: a comprehensive review.Frontiers in medicine · 2025Review
- Role of inducible nitric oxide (iNOS) and nitrosative stress in regulating sex differences in secondary lymphedema.Frontiers in physiology · 2024Article
- Low Efficacy of Genetic Tests for the Diagnosis of Primary Lymphedema Prompts Novel Insights into the Underlying Molecular Pathways.International journal of molecular sciences · 2022Article
- Crosstalk Between microRNAs and the Pathological Features of Secondary Lymphedema.Frontiers in cell and developmental biology · 2021Review
- Two rare PROX1 variants in patients with lymphedema.Molecular genetics & genomic medicine · 2020Article
Corrections and comments
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Authors and funding
16 authors at 10 institutions in 5 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundThe PROX1 gene is specifically expressed in a subpopulation of endothelial cells that, by budding and sprouting, give rise to the lymphatic system. It also plays a critical role in neurogenesis and during development of many organs, such as the eye lens, liver, and pancreas.
methodsWe used next-generation sequencing (NGS) to sequence the DNA of a cohort of 246 Italian patients with lymphatic malformations. We first investigated 29 known disease-causing genes: 235 of 246 patients tested negative and were then retested for a group of candidate genes, including PROX1, selected from a database of mouse models. The aim of the study was to define these patients' genotypes and explore the role of the candidate gene PROX1 in lymphedema.
resultsTwo of 235 probands were found to carry rare heterozygous missense variants in PROX1. In silico analysis of these variants-p.(Leu590His) and p.(Gly106Asp)-indicates that the overall protein structure was altered by changes in interactions between nearby residues, leading to functional protein defects.
conclusionsOur results suggest that PROX1 is a new candidate gene for predisposition to lymphedema.
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